[HTML][HTML] Li-fraumeni syndrome
K Schneider, K Zelley, KE Nichols… - GeneReviews® …, 2024 - ncbi.nlm.nih.gov
Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks
for a broad spectrum of cancers including early-onset cancers. Five cancer types account for …
for a broad spectrum of cancers including early-onset cancers. Five cancer types account for …
Clonal hematopoiesis, inflammation, and hematologic malignancy
R Kanagal-Shamanna, DB Beck… - Annual Review of …, 2024 - annualreviews.org
Somatic or acquired mutations are postzygotic genetic variations that can occur within any
tissue. These mutations accumulate during aging and have classically been linked to …
tissue. These mutations accumulate during aging and have classically been linked to …
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical …
Disclaimer: This statement is designed primarily as an educational resource for medical
geneticists and other clinicians to help them provide quality medical services. Adherence to …
geneticists and other clinicians to help them provide quality medical services. Adherence to …
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants
Germline pathogenic variants in TP53 are associated with Li‐Fraumeni syndrome, a cancer
predisposition disorder inherited in an autosomal dominant pattern associated with a high …
predisposition disorder inherited in an autosomal dominant pattern associated with a high …
Differences in cancer phenotypes among frequent CHEK2 variants and implications for clinical care—checking CHEK2
Importance GermlineCHEK2pathogenic variants (PVs) are frequently detected by multigene
cancer panel testing (MGPT), but our understanding of PVs beyond c. 1100del has been …
cancer panel testing (MGPT), but our understanding of PVs beyond c. 1100del has been …
[HTML][HTML] Germline TP53 pathogenic variants and breast cancer: A narrative review
E Blondeaux, L Arecco, K Punie, R Graffeo… - Cancer treatment …, 2023 - Elsevier
Approximately 10% of breast cancers are associated with the inheritance of a pathogenic
variant (PV) in one of the breast cancer susceptibility genes. Multiple breast cancer …
variant (PV) in one of the breast cancer susceptibility genes. Multiple breast cancer …
Clinical and therapeutic implications of clonal hematopoiesis
Clonal hematopoiesis (CH) is an age-related process whereby hematopoietic stem and
progenitor cells (HSPCs) acquire mutations that lead to a proliferative advantage and clonal …
progenitor cells (HSPCs) acquire mutations that lead to a proliferative advantage and clonal …
Aligning germline cancer predisposition with tumor-based next-generation sequencing for modern oncology diagnosis, interception, and therapeutic development
TA Yap, ZK Stadler, LA Stout… - American Society of …, 2023 - ascopubs.org
In the era of precision medicine, genomic interrogation for identification of both germline and
somatic genetic alterations has become increasingly important. While such germline testing …
somatic genetic alterations has become increasingly important. While such germline testing …
[HTML][HTML] Clonal hematopoiesis in cancer
SJ Park, R Bejar - Experimental hematology, 2020 - Elsevier
Highlights•The clinical implications of clonal hematopoiesis in the cancer setting are
reviewed.•The biologic interplay between clonal hematopoiesis and development of solid …
reviewed.•The biologic interplay between clonal hematopoiesis and development of solid …
Preclinical models of adrenocortical cancer
Simple Summary Adrenocortical cancer is a very rare form of endocrine cancer with dismal
prognosis. Preclinical models such as cell lines, organoids, and mouse models are essential …
prognosis. Preclinical models such as cell lines, organoids, and mouse models are essential …